Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.
Congenit Anom (Kyoto)
; 63(4): 121-124, 2023 Jul.
Article
in En
| MEDLINE
| ID: mdl-36946065
ABSTRACT
When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism. Nanopore long-read sequencing was shown to be useful in elucidating the exact genetic etiology of patients with nonspecific clinical findings.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Autism Spectrum Disorder
/
Intellectual Disability
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Humans
Language:
En
Journal:
Congenit Anom (Kyoto)
Journal subject:
TERATOLOGIA
Year:
2023
Document type:
Article
Affiliation country: